CHEK2 and hereditary cancer: A similar approach was carried out by Dixon et al., 2023, who reported that LRS accurately detected all the CNVs (from single exons to whole genes, including a tandem duplication) in BRCA1, BRCA2, CHEK2 and PALB2 previously identified in nineteen patients, and defined the precise breakpoints of SVs in BRCA1 and CHEK2, revealing unforeseen allelic heterogeneity and demonstrating the potential for LRS as a powerful genetic testing assay in the hereditary cancer setting.